Three novel mutations in the Von Hippel-Lindau tumour suppressor gene in Italian patients.
Mandich
P
P
Institute of Biology and Genetics, University of Genoa, Italy.
Montera
M
M
Bellone
E
E
Trojani
A
A
Daniele
S
S
Ajmar
F
F
D019943:Amino Acid Substitution; D001483:Base Sequence; D018388:Codon, Terminator / Q000235:genetics; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D006801:Humans; D007558:Italy; D008025:Ligases; D008297:Male; D009154:Mutation; D020125:Mutation, Missense; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D011506:Proteins / Q000235:genetics*; D017384:Sequence Deletion; D025521:Tumor Suppressor Proteins; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D006623:von Hippel-Lindau Disease / Q000235:genetics* / Q000473:pathology
D018388:Codon, Terminator; D011506:Proteins; D025521:Tumor Suppressor Proteins; D004247:DNA; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D008025:Ligases; C497446:VHL protein, human